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ORIGINAL ARTICLE
Year : 2016  |  Volume : 64  |  Issue : 7  |  Page : 508-512

Further evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract


Department of Ophthalmology; Shanghai Key Laboratory of Visual Impairment and Restoration; Key Laboratory of Myopia, Ministry of Health, Eye and ENT Hospital of Fudan University, Shanghai, China

Correspondence Address:
Xinghuai Sun
Eye and ENT Hospital of Fudan University, 83 Fenyang Road, Shanghai 200031
China
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0301-4738.190139

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Context: Congenital cataracts are one of the common eye disorders leading to visual impairment or blindness in children worldwide. We found a Chinese family with autosomal dominant pulverulent cataract. Aims: To identify the pathogenic gene mutation in a Chinese family with autosomal dominant inherited pulverulent cataract. Subjects and Methods: After obtained informed consent, detailed ophthalmic examinations were carried out; genomic DNAs were obtained from seven family members in a three-generation Chinese family with three affected. All exons of candidate genes were amplified by polymerase chain reaction and were sequenced performed by bidirectional sequencing. Results: By sequencing the encoding regions of the candidate genes, a missense mutation (c. 176C>T) was detected in gap junction protein alpha 3 genes (GJA3), which resulted in the substitution of highly conserved proline by leucine at codon 59 (p.P59L). The mutation co-segregated with all patients and was absent in 100 normal Chinese controls. Conclusions: The study identified a missense mutation (c. 176C>T) in GJA3 gene associated with autosomal dominant congenital pulverulent cataract in a Chinese family. It gave further evidence of phenotype heterogeneity for P59L mutation in GJA3 associated with congenital cataract.


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